Společnost C-M-T


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Společnost C-M-T
Klinika dětské neurologie 2. LF UK a FN Motol
V Úvalu 84/1, 150 05 Praha 5

Společnost C-M-T je zapsána ve spolkovém rejstříku, vedeném u Městského soudu v Praze v oddílu L, vložka 10085.

IČ: 69346909

Bankovní spojení
Poštovní spořitelna, a.s.
Č. ú.: 156897053/0300

Kontaktní adresa
Předseda Společnosti C-M-T
Mgr. Michal Šimůnek
Ve Stromovce 713, 500 11 Hradec Králové
Tel.: 605 258 522, 724 330 798
E-mail: simunekm@seznam.cz, c-m-t@post.cz

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English

Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies

Inherited peripheral neuropathies, likemany other degenerative disorders, have been challenging to treat. At this point, there is little specific therapy for the inherited neuropathies other than genetic counseling aswell as symptomatic treatment and rehabilitation. In the past, ascorbic acid, progesterone antagonists, and subcutaneous neurotrophin-3 (NT3) injections have demonstrated improvement in animal models of CMT 1A, the most common inherited neuropathy, but have failed to translate any effect in humans.

Given the difficulty in treatment, it is important to understand themolecular pathogenesis of hereditary neuropathies in order to strategize potential future therapies. The hereditary neuropathies are in an era of molecular insight and over the past 20 years, more than 78 subtypes of Charcot Marie Tooth disease (CMT) have been identified and extensively studied to understand the biological pathways in greater detail. Next generation molecular sequencing has also improved the diagnosis as well as the understanding of CMT. A greater understanding of the molecular pathways will help pave the way to future therapeutics of CMT. This article is part of a Special Issue entitled: Neuromuscular Diseases: Pathology and Molecular Pathogenesis.

Document: Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies (.pdf; 966 Kb).


vydáno: 22. 12. 2014
přečteno: 11045 krát

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